SPTA1

GENERAL INFORMATION

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Gene name

SPTA1

Gene description

Spectrin, alpha, erythrocytic 1

Protein class

Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enriched (bone marrow)
GTEx:Group enriched (spleen, testis)

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in bone marrow and distinct positivity in erythrocytes.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data. Antibody staining in cells/structures not annotated, view images.

Data reliability

Supportive based on 4 antibodies.
HPA028048 , HPA028253 , CAB016193 , CAB037246
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Bone marrow

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enriched (bone marrow)

Organ

Expression

GTEx dataset
RNA tissue category:  Group enriched (spleen, testis)

Organ

Expression



GENE INFORMATION

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Gene name

SPTA1 (HGNC Symbol)

Synonyms

EL2

Description

Spectrin, alpha, erythrocytic 1 (HGNC Symbol)

Entrez gene summary

Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is a tetramer made up of alpha-beta dimers linked in a head-to-head arrangement. This gene is one member of a family of alpha-spectrin genes. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms weaker tetramer interactions than non-erythrocytic alpha spectrin, which may increase the plasma membrane elasticity and deformability of red blood cells. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis type 2, pyropoikilocytosis, and spherocytic hemolytic anemia. [provided by RefSeq, Jul 2008]

Chromosome

1

Cytoband

q23.1

Chromosome location (bp)

158610706 - 158686698

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000163554 (version 78.38)

Entrez gene

6708

UniProt

P02549 (UniProt - Evidence at protein level)

neXtProt

NX_P02549

Antibodypedia

SPTA1 antibodies


PROTEIN BROWSER

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ENST00000368147
 
ENST00000467387
 
ENST00000614909
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SPTA1-001 ENSP00000357129
ENST00000368147
P02549
Show all »
Show » Show » 2419 280 No 0
SPTA1-003 ENSP00000476485
ENST00000467387
V9GY79
Show all »
Show » Show » 124 14.4 No 0
SPTA1-201 ENSP00000482595
ENST00000614909
Show » Show » 2430 281.1 No 0